Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PUM2 23369 broad.mit.edu 37 2 20463176 20463176 + Missense_Mutation SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:20463176C>T ENST00000361078.2 - 13 2025 c.2003G>A c.(2002-2004)gGa>gAa p.G668E PUM2_ENST00000338086.5_Missense_Mutation_p.G668E|PUM2_ENST00000536417.1_Missense_Mutation_p.G612E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E|PUM2_ENST00000319801.5_Missense_Mutation_p.G589E Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 668 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTTCTGCTCCAGGTGCTGC 0.443000 43 63 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17548858 17548858 + Missense_Mutation SNP C C T rs142259163 TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:17548858C>T ENST00000375471.4 + 2 258 c.166C>T c.(166-168)Cgc>Tgc p.R56C NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 56 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.R56C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGTCTACAACCGCACACGTGT 0.552000 6 33 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107413898 107413898 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chrX:107413898G>A ENST00000334504.7 - 35 3667 c.3434C>T c.(3433-3435)tCt>tTt p.S1145F COL4A6_ENST00000372216.4_Missense_Mutation_p.S1146F|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1146 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GTGACCAGAAGAACCTGGAAG 0.512000 Alport syndrome with Diffuse Leiomyomatosis 5 153 0 0 1 0 0 RPS12 6206 broad.mit.edu 37 6 133138155 133138155 + Silent SNP G G A rs1052683 TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr6:133138155G>A ENST00000230050.3 + 5 501 c.291G>A c.(289-291)gaG>gaA p.E97E NM_001016.3 NP_001007.2 P25398 RS12_HUMAN ribosomal protein S12 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(13)|lung(3)|urinary_tract(1) 18 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) TTGACAGAGAGGGGAAACCCC 0.373000 3 38 0 0 1 0 0 C12orf45 121053 broad.mit.edu 37 12 105385571 105385571 + Missense_Mutation SNP C C G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr12:105385571C>G ENST00000552951.1 + 3 327 c.284C>G c.(283-285)cCt>cGt p.P95R C12orf45_ENST00000280749.5_Intron NM_152318.2 NP_689531.2 Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 95 large_intestine(1)|lung(2) 3 GCTGCACCACCTGGTCGTTTC 0.403000 8 62 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34182738 34182738 + Missense_Mutation SNP C C T rs115744817 byFrequency TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr17:34182738C>T ENST00000311880.2 - 14 1443 c.1295G>A c.(1294-1296)cGc>cAc p.R432H C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 432 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TTGTGGACTGCGGATCCCCAG 0.532000 3 41 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224418 77224418 + Missense_Mutation SNP A A G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chrX:77224418A>G ENST00000458128.1 - 1 717 c.718T>C c.(718-720)Tgc>Cgc p.C240R ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 240 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity p.C240R(1) endometrium(2)|lung(4) 6 ATGGCTTTGCACACCGTCTCT 0.562000 4 97 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 3 26 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43905438 43905438 + Nonsense_Mutation SNP C C G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:43905438C>G ENST00000562955.1 + 49 6869 c.6869C>G c.(6868-6870)tCa>tGa p.S2290* SZT2_ENST00000372442.1_Nonsense_Mutation_p.S1448* NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2347 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GACAGTTCTTCAGGTGGGACA 0.587000 14 4 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26621012 26621012 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr13:26621012G>A ENST00000319420.3 - 2 582 c.527C>T c.(526-528)tCg>tTg p.S176L NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 176 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 GCGTGAGGACGACCCCCGGGA 0.667000 35 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430601 179430601 + Missense_Mutation SNP T T C TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:179430601T>C ENST00000589042.1 - 326 80482 c.80258A>G c.(80257-80259)tAt>tGt p.Y26753C TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y25112C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25112 Ig-like 128. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGAAGTAATAAATGGCTCC 0.418000 12 123 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 26 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129265714 129265714 + Silent SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chrX:129265714G>A ENST00000287295.3 - 14 1739 c.1509C>T c.(1507-1509)ccC>ccT p.P503P AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000319908.3_Silent_p.P499P NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 503 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 CACCAACTGTGGGCAAACTAC 0.478000 11 175 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27752044 27752044 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr16:27752044G>A ENST00000261588.4 + 15 2445 c.2426G>A c.(2425-2427)cGg>cAg p.R809Q NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 809 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 AAAGGCCTACGGCATGAGCCA 0.597000 15 19 0 0 1 0 0 SPDYA 245711 broad.mit.edu 37 2 29072796 29072796 + Missense_Mutation SNP A A C TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:29072796A>C ENST00000334056.5 + 8 1120 c.931A>C c.(931-933)Agt>Cgt p.S311R SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R|TRMT61B_ENST00000306108.5_3'UTR NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 311 G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GTTTACAGGAAGTGAAGAATG 0.323000 16 26 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102675248 102675248 + Missense_Mutation SNP C C G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr14:102675248C>G ENST00000335263.5 + 3 821 c.741C>G c.(739-741)ttC>ttG p.F247L WDR20_ENST00000342702.3_Missense_Mutation_p.F247L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000424963.2_Missense_Mutation_p.F123L NM_181291.2 NP_851808.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 247 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 TGCGGGTGTTCAACTTTGACT 0.567000 21 23 0 0 1 0 0 RAB11B 9230 broad.mit.edu 37 19 8464766 8464766 + Silent SNP A A G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr19:8464766A>G ENST00000328024.6 + 2 278 c.60A>G c.(58-60)tcA>tcG p.S20S RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.S20S NM_004218.3 NP_004209.2 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 20 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity large_intestine(2)|lung(1)|ovary(1) 4 TCGGGGACTCAGGCGTGGGCA 0.647000 3 21 0 0 1 0 0 ADO 84890 broad.mit.edu 37 10 64565028 64565028 + Missense_Mutation SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr10:64565028C>T ENST00000373783.1 + 1 513 c.209C>T c.(208-210)cCg>cTg p.P70L RP11-436D10.3_ENST00000425290.1_RNA NM_032804.5 NP_116193.2 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 70 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) AACATCGCCCCGCGCAAGGCC 0.672000 3 20 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 3 53 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125450247 125450247 + Missense_Mutation SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr12:125450247C>T ENST00000308736.2 - 13 1800 c.1702G>A c.(1702-1704)Gat>Aat p.D568N DHX37_ENST00000544745.1_Missense_Mutation_p.D355N NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 568 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AGGTCCAGATCGAGGTCGGAG 0.597000 10 13 0 0 1 0 0 LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 6 --- --- --- --- LOC440173 440173 broad.mit.edu 37 9 89628124 89628125 + RNA INS - - A rs35998235 TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr9:89628124_89628125insA ENST00000602579.1 - 0 256 NR_027471.1 TGTCTCCCTTCAAAAAAAAAAA 0.366 4 3 --- --- --- --- UBR7 55148 broad.mit.edu 37 14 93673726 93673726 + Frame_Shift_Del DEL G G - TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr14:93673726delG ENST00000013070.6 + 1 326 c.90delG c.(88-90)ctfs p.L30fs RP11-371E8.4_ENST00000557574.1_Intron|UBR7_ENST00000416753.1_5'UTR|RP11-371E8.4_ENST00000557048.1_Intron NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 30 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 ACGAGGAGCTGGAGAATGAGG 0.706 OREG0022885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25470450 25470452 + RNA DEL GGA GGA - TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr15:25470450_25470452delGGA ENST00000453082.2 + 0 1061 NR_003343.1 TGAGAATTTTGGAGGAGGACACT 0.493 22 191 --- --- --- --- USP3-AS1 100130855 broad.mit.edu 37 15 63889523 63889523 + RNA DEL C C - TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr15:63889523delC ENST00000560962.1 - 0 548 USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000558831.1_RNA CCATATATGTCCACCGGCCCA 0.572 2 4 --- --- --- --- TNFSF12-TNFSF13 407977 broad.mit.edu 37 17 7452625 7452626 + Frame_Shift_Del DEL CC CC - TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr17:7452625_7452626delCC ENST00000293826.4 + 1 210_211 c.155_156delCC c.(154-156)gfs p.A52fs TNFSF12_ENST00000557233.1_Frame_Shift_Del_p.A52fs|TNFSF12_ENST00000293825.6_Frame_Shift_Del_p.A52fs NM_172089.3 NP_742086.1 Q8IZK7 Q8IZK7_HUMAN 52 immune response extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|large_intestine(2) 3 Prostate(122;0.157) TCGCTGTCCGCCCAGGTGAGGC 0.733 2 4 --- --- --- ---